LOCUS       NM_001289029            2214 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens eukaryotic elongation factor 2 lysine
            methyltransferase (EEF2KMT), transcript variant 3, mRNA.
ACCESSION   NM_001289029
VERSION     NM_001289029.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2214)
  AUTHORS   Francis,J.W., Shao,Z., Narkhede,P., Trinh,A.T., Lu,J., Song,J. and
            Gozani,O.
  TITLE     The FAM86 domain of FAM86A confers substrate specificity to promote
            EEF2-Lys525 methylation
  JOURNAL   J Biol Chem 299 (7), 104842 (2023)
   PUBMED   37209825
  REMARK    GeneRIF: The FAM86 domain of FAM86A confers substrate specificity
            to promote EEF2-Lys525 methylation.
REFERENCE   2  (bases 1 to 2214)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2214)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2214)
  AUTHORS   Davydova,E., Ho,A.Y.Y., Malecki,J., Moen,A., Enserink,J.M.,
            Jakobsson,M.E., Loenarz,C. and Falnes,P.O.
  TITLE     Identification and characterization of a novel evolutionarily
            conserved lysine-specific methyltransferase targeting eukaryotic
            translation elongation factor 2 (eEF2)
  JOURNAL   J Biol Chem 289 (44), 30499-30510 (2014)
   PUBMED   25231979
  REMARK    GeneRIF: Previously uncharacterized lysine-specific
            methyltransferase FAM86A and Yjr129c introduce a functionally
            important lysine methylation in eEF2.
REFERENCE   5  (bases 1 to 2214)
  AUTHORS   Toro,C., Olive,M., Dalakas,M.C., Sivakumar,K., Bilbao,J.M.,
            Tyndel,F., Vidal,N., Farrero,E., Sambuughin,N. and Goldfarb,L.G.
  TITLE     Exome sequencing identifies titin mutations causing hereditary
            myopathy with early respiratory failure (HMERF) in families of
            diverse ethnic origins
  JOURNAL   BMC Neurol 13, 29 (2013)
   PUBMED   23514108
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2214)
  AUTHORS   Cloutier,P., Lavallee-Adam,M., Faubert,D., Blanchette,M. and
            Coulombe,B.
  TITLE     A newly uncovered group of distantly related lysine
            methyltransferases preferentially interact with molecular
            chaperones to regulate their activity
  JOURNAL   PLoS Genet 9 (1), e1003210 (2013)
   PUBMED   23349634
REFERENCE   7  (bases 1 to 2214)
  AUTHORS   Fox,C.S., Liu,Y., White,C.C., Feitosa,M., Smith,A.V.,
            Heard-Costa,N., Lohman,K., Johnson,A.D., Foster,M.C.,
            Greenawalt,D.M., Griffin,P., Ding,J., Newman,A.B., Tylavsky,F.,
            Miljkovic,I., Kritchevsky,S.B., Launer,L., Garcia,M.,
            Eiriksdottir,G., Carr,J.J., Gudnason,V., Harris,T.B., Cupples,L.A.
            and Borecki,I.B.
  CONSRTM   GIANT Consortium; MAGIC Consortium; GLGC Consortium
  TITLE     Genome-wide association for abdominal subcutaneous and visceral
            adipose reveals a novel locus for visceral fat in women
  JOURNAL   PLoS Genet 8 (5), e1002695 (2012)
   PUBMED   22589738
REFERENCE   8  (bases 1 to 2214)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026458.8.
            
            On Aug 14, 2020 this sequence version replaced NM_001289029.1.
            
            Transcript Variant: This variant (3) lacks two alternate exons in
            the coding region compared to variant 1. The resulting protein
            (isoform 3) is shorter but has the same N- and C-termini compared
            to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AL522535.3, SRR14038193.946363.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-152               AC026458.8         86051-86202         c
            153-215             AC026458.8         83859-83921         c
            216-349             AC026458.8         78839-78972         c
            350-615             AC026458.8         78491-78756         c
            616-765             AC026458.8         77514-77663         c
            766-2214            AC026458.8         72691-74139         c
FEATURES             Location/Qualifiers
     source          1..2214
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2214
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="eukaryotic elongation factor 2 lysine
                     methyltransferase"
                     /db_xref="GeneID:196483"
                     /db_xref="HGNC:HGNC:32221"
                     /db_xref="MIM:615263"
     exon            1..152
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..866
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="isoform 3 is encoded by transcript variant 3;
                     protein FAM86A; putative protein N-methyltransferase
                     FAM86A; family with sequence similarity 86, member A;
                     eEF2-lysine methyltransferase; protein-lysine
                     N-methyltransferase EEF2KMT"
                     /codon_start=1
                     /product="protein-lysine N-methyltransferase EEF2KMT
                     isoform 3"
                     /protein_id="NP_001275958.1"
                     /db_xref="CCDS:CCDS73823.1"
                     /db_xref="GeneID:196483"
                     /db_xref="HGNC:HGNC:32221"
                     /db_xref="MIM:615263"
                     /translation="MAPEENAGTELLLQSFERRFLAARTLRSFPWQSLEAKLRDSSDS
                     ELLRDILHKPSGGSVTLSESTAIISYGTTGLVTWDAALYLAEWAIENPAVFTNRTVLE
                     LGSGAGLTGLAICKMCRPRAYIFSDCHSRVLEQLRGNVLLNGLSLEADITAKLDSPRV
                     TVAQLDWDVATVHQLSAFQPDVVIAADVLYCPEAIMSLVGVLRRLAACREHQRAPEVY
                     VAFTVRNPETCQLFTTELGRAGIRWEVEPRHEQKLFPYEEHLEMAMLNLTL"
     exon            153..215
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            216..349
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            350..615
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            616..765
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     exon            766..2214
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /inference="alignment:Splign:2.1.0"
     regulatory      941..946
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="hexamer: GATAAA"
     polyA_site      964
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="major polyA site"
     regulatory      1137..1142
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="hexamer: AATAAA"
     polyA_site      1173
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
     regulatory      1758..1763
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
                     /note="hexamer: AATAAA"
     polyA_site      1780
                     /gene="EEF2KMT"
                     /gene_synonym="eEF2-KMT; EFM3; FAM86A; SB153"
ORIGIN      
        1 agtccaggcc gggcttccgc ccggtctgcc ggcaacgctg cggccccgcc cacgtcatgg
       61 cgcccgagga gaacgcgggg accgaactct tgctgcagag tttcgagcgc cgcttcctgg
      121 cggcacgcac actgcgctcc ttcccctggc agagcttaga agcaaagtta agagactcat
      181 cagattctga gctgctgcgg gatattttgc acaagccctc gggaggctcg gtcacactct
      241 ccgagagcac ggccatcatc tcctacggta ccacaggcct ggtcacatgg gacgccgccc
      301 tctaccttgc agaatgggcc atcgagaacc cggcagtctt cactaacagg actgtcctag
      361 agcttggcag tggtgctggc ctcacaggcc tggccatctg caagatgtgc cgcccccggg
      421 catacatctt cagcgactgt cacagccggg tccttgagca gctccgaggg aatgtccttc
      481 tcaatggcct ctcattagag gcagacatca ctgccaagtt agacagcccc agggtgacag
      541 tggcccagct ggactgggac gtcgcgacgg tccatcagct ctctgccttc cagccagatg
      601 ttgtcattgc agcagatgtg ctgtattgcc cagaagccat catgtcgctg gtcggggtcc
      661 tgcggaggct ggctgcctgc cgggagcacc agcgggctcc tgaggtctac gtggccttta
      721 ccgtccgcaa cccagagacg tgccagctgt tcaccaccga gctaggccgg gccgggatca
      781 gatgggaagt ggaacctcgt catgagcaga aactgtttcc ctacgaagag cacttggaga
      841 tggcaatgct gaatctcacc ctgtaggact cacacacgac tccaacggga ttgtgagaat
      901 caagtcactc tcatgggaag aatttttata tgggaaagcg gataaaactt tcattggact
      961 ggaatgtttg gagaatgtta atttccaaat caggaaccac aaactgccct ctaataagac
     1021 atcggctatc taagcgtgtg ggtgccccct ttctgccagc agttctggtt cttaagaaaa
     1081 tcaccataaa tcagacatga aaattctggc tccaaaaata gcattttctt tgtgcaaata
     1141 aaaacgtgtg tatcaagtat gatgttcccc caacgtggac acactcagtt cctcacaaag
     1201 ccaagcccac tgcagctgcc acatccctgg gcttacggtg cagcaggtgc ttttttcaag
     1261 acaggaatca aaatgttagg aacacggcag aaaggggaca cctggagacc aaacgcagga
     1321 tgaggagttc tgcagaggtc acagggaagt cacagaacag taatacgcta gcaggggcat
     1381 ggggcgtgaa gaacagaaga agagaggaag cgtttccaag cctccagaga agaaatcaag
     1441 gccaaccaaa gcttcccggg tcacagaacc aattctttta ccaggcagta ccactgctgt
     1501 catttcagct tctggccact gggaggtgct gctcgaaagg gtttgccctg agactccaag
     1561 aagaagctgc gggaaggaca gcaggggtcc tggggtttta gcctctggcc caggagttat
     1621 gtgtccataa ccaaagggag cacagtctgc acccagctct catcccatcg gagctgctgc
     1681 gactcccgca ggttcttccg gaactggttt agcttgcccg caggatcagg aaagtttgag
     1741 aaaagcatct gcaaaaaaat aaagagcaga gcttacctca ttgcctgtcc ccaccccatc
     1801 ccaggtcacc acctggctga ccccaggtcc ccgacccaac aacaacccct cccaagtccc
     1861 taactccctc acttggactc gagacccttc acaccccagc agcactccgc ctccaacttg
     1921 acatcacagt ttctggaaac ttccccgcat gtcccacttt cccacacttg gtgccctgga
     1981 gcacctcccg gcctctacgt gctgcccatt cccctgtgag caccctcctc tcggcctctg
     2041 gccaacgcag tctcacccat ctgtgggtaa caagggggtg tcggtgttct ttgcagcctt
     2101 gctaaactgt ctgaatcaag gatcacaaac tacagcctgc aggccaaatc cagcccacag
     2161 cctgtgtttg taaataaagt tttattggaa caaagccaca ccccttaatc taca
//
